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Results 1 - 10 of 35 for Thrombocytopenia 5
  1. X-linked thrombocytopenia 
    ... syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia. Int J Mol Med. 2007 May;19(5):777-82. Citation on PubMed Bourne HC, Weston ...
    https://medlineplus.gov/genetics/condition/x-linked-thrombocytopenia - Genetics
  2. STIM1 gene 
    ... to break down earlier than usual, leading to thrombocytopenia and bleeding problems ... At least five gain-of-function mutations cause tubular aggregate myopathy ...
    https://medlineplus.gov/genetics/gene/stim1 - Genetics
  3. Thrombocytopenia-absent radius syndrome 
    ... Kerckaert JP, Holder-Espinasse M, Manouvrier-Hanu S. Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling. Eur J Med Genet. 2011 Sep-Oct;54(5):e471-7. doi: 10.1016/j.ejmg.2011. ...
    https://medlineplus.gov/.../thrombocytopenia-absent-radius-syndrome - Genetics
  4. Thrombotic thrombocytopenic purpura 
    ... reduced level of circulating platelets is known as thrombocytopenia. Thrombocytopenia can lead to small areas of bleeding just ... inherited. Chronic relapsing thrombotic thrombocytopenic purpura Familial ... thrombotic thrombocytopenic TTP Genetic ...
    https://medlineplus.gov/.../thrombotic-thrombocytopenic-purpura - Genetics
  5. Jacobsen syndrome 
    ... disorder 11q- deletion syndrome 11q23 deletion disorder Jacobsen thrombocytopenia Genetic Testing Registry: 11q partial monosomy syndrome Jacobsen ... Non-Compaction. Circ Res. 2022 Aug 19;131(5):371-387. doi: 10.1161/CIRCRESAHA.121.319955. ...
    https://medlineplus.gov/genetics/condition/jacobsen-syndrome - Genetics
  6. Von Willebrand disease 
    ... rarest form of the condition, accounting for about 5 percent of affected individuals, and is usually the ... von Willebrand disease. Blood Adv. 2021 Jan 12;5(1):301-325. doi: 10.1182/bloodadvances.2020003264. ...
    https://medlineplus.gov/genetics/condition/von-willebrand-disease - Genetics
  7. GNE gene 
    ... found to have a lower number of platelets (thrombocytopenia), a condition called GNE-related thrombocytopenia. When variants in the GNE gene reduce the ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  8. MYH9-related disorder 
    ... people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets, which ... features. All individuals with MYH9-related disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals will ...
    https://medlineplus.gov/genetics/condition/myh9-related-disorder - Genetics
  9. GATA1 gene 
    ... have been found to cause dyserythropoietic anemia and thrombocytopenia. Most of these mutations change a single protein ... cells (anemia) and platelets involved in blood clotting (thrombocytopenia), which are characteristic features of dyserythropoietic anemia and ...
    https://medlineplus.gov/genetics/gene/gata1 - Genetics
  10. Atypical hemolytic-uremic syndrome 
    ... major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure.Hemolytic anemia occurs when red ... shortness of breath, and a rapid heart rate.Thrombocytopenia is a reduced level of circulating platelets, which ...
    https://medlineplus.gov/.../atypical-hemolytic-uremic-syndrome - Genetics
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